#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ZMIZ1	57178	broad.mit.edu	37	10	81060655	81060655	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr10:81060655C>G	ENST00000334512.5	+	17	2547	c.1975C>G	c.(1975-1977)Ccg>Gcg	p.P659A		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	659					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CGTGTGCCAGCCGGGCCGCAA	0.667																																						uc001kaf.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(1975-1977)Ccg>Gcg		Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.							101.0	100.0	100.0					10																	81060655		2203	4300	6503	SO:0001583	missense	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81060655C>G	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.1975C>G	10.37:g.81060655C>G	ENSP00000334474:p.Pro659Ala		Somatic				ZMIZ1_uc001kag.2_Missense_Mutation_p.P535A	p.P659A	NM_020338	NP_065071	WXS	Illumina GAIIx	Phase_I	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		16	2547	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		659					Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	c.1975C>G	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906125	0.92107	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347	T	0.35605	1.3	5.32	5.32	0.75619	.	0.000000	0.41396	D	0.000892	T	0.46464	0.1394	L	0.47716	1.5	0.80722	D	1	P	0.51147	0.942	P	0.51918	0.684	T	0.33292	-0.9874	10	0.44086	T	0.13	-15.9962	18.9883	0.92780	0.0:1.0:0.0:0.0	.	659	Q9ULJ6	ZMIZ1_HUMAN	A	659;589;564	ENSP00000334474:P659A	ENSP00000334474:P659A	P	+	1	0	ZMIZ1	80730661	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.447000	0.80620	2.477000	0.83638	0.591000	0.81541	CCG		0.667	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		36	73	0	0	0	1	0	36	73				
PDCD4	27250	broad.mit.edu	37	10	112649373	112649373	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr10:112649373A>G	ENST00000280154.7	+	7	1134	c.860A>G	c.(859-861)gAt>gGt	p.D287G	PDCD4_ENST00000393104.2_Missense_Mutation_p.D276G|PDCD4_ENST00000481353.1_3'UTR	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	287					apoptotic process (GO:0006915)|cell aging (GO:0007569)|negative regulation of cell cycle (GO:0045786)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GGAACTGTAGATTGTGTGCAG	0.338																																					Ovarian(115;1498 1603 9363 40056 40885)	uc001kzh.3																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13						c.(859-861)gAt>gGt		Homo sapiens programmed cell death 4 (neoplastic transformation inhibitor) (PDCD4), transcript variant 1, mRNA.							162.0	178.0	173.0					10																	112649373		2203	4298	6501	SO:0001583	missense	27250				apoptosis|cell aging|negative regulation of JUN kinase activity|negative regulation of cell cycle|negative regulation of transcription, DNA-dependent	cytosol|nucleus	RNA binding|protein binding	g.chr10:112649373A>G	U83908	CCDS7567.1, CCDS44478.1	10q24	2008-08-01			ENSG00000150593	ENSG00000150593			8763	protein-coding gene	gene with protein product	"""nuclear antigen H731"""	608610				9759869	Standard	NM_014456		Approved	H731	uc001kzh.3	Q53EL6	OTTHUMG00000019048	ENST00000280154.7:c.860A>G	10.37:g.112649373A>G	ENSP00000280154:p.Asp287Gly		Somatic				PDCD4_uc001kzg.3_Missense_Mutation_p.D276G|PDCD4_uc010qre.2_Missense_Mutation_p.D273G	p.D287G	NM_014456	NP_055271	WXS	Illumina GAIIx	Phase_I	Q53EL6	PDCD4_HUMAN		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)	6	1146	+		Breast(234;0.0848)|Lung NSC(174;0.238)	287					B2RCV4|B5ME91|O15501|Q5VZS6|Q6PJI5|Q8TAR5|Q99834	Missense_Mutation	SNP	ENST00000280154.7	37	c.860A>G	CCDS7567.1	.	.	.	.	.	.	.	.	.	.	A	17.38	3.374374	0.61735	.	.	ENSG00000150593	ENST00000280154;ENST00000393104	T;T	0.45668	0.89;0.89	5.79	5.79	0.91817	Armadillo-type fold (1);	0.041576	0.85682	D	0.000000	T	0.46833	0.1413	M	0.73598	2.24	0.80722	D	1	B;B;B	0.15141	0.001;0.012;0.004	B;B;B	0.13407	0.009;0.009;0.009	T	0.39187	-0.9626	10	0.40728	T	0.16	-22.1437	16.1276	0.81406	1.0:0.0:0.0:0.0	.	273;287;276	B4DKX4;Q53EL6;B5ME91	.;PDCD4_HUMAN;.	G	287;276	ENSP00000280154:D287G;ENSP00000376816:D276G	ENSP00000280154:D287G	D	+	2	0	PDCD4	112639363	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.962000	0.93254	2.219000	0.72066	0.402000	0.26972	GAT		0.338	PDCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050361.1	NM_014456		12	57	0	0	0	1	0	12	57				
NINL	22981	broad.mit.edu	37	20	25507167	25507167	+	Silent	SNP	G	G	A			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr20:25507167G>A	ENST00000278886.6	-	2	130	c.57C>T	c.(55-57)tgC>tgT	p.C19C	NINL_ENST00000422516.1_Silent_p.C19C	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	19	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CCGTGGTGTCGCAGCTGCTGT	0.577																																						uc002wux.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(55-57)tgC>tgT		Homo sapiens ninein-like (NINL), mRNA.							131.0	125.0	127.0					20																	25507167		2203	4300	6503	SO:0001819	synonymous_variant	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25507167G>A		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.57C>T	20.37:g.25507167G>A			Somatic				NINL_uc010gdn.1_Silent_p.C19C|NINL_uc010gdo.1_5'UTR|NINL_uc010ztf.1_Silent_p.C35C	p.C19C	NM_025176	NP_079452	WXS	Illumina GAIIx	Phase_I	Q9Y2I6	NINL_HUMAN			1	131	-			19			EF-hand 1.		A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Silent	SNP	ENST00000278886.6	37	c.57C>T	CCDS33452.1																																																																																				0.577	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		48	66	0	0	0	1	0	48	66				
ZFYVE27	118813	broad.mit.edu	37	10	99498333	99498333	+	Silent	SNP	A	A	G			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr10:99498333A>G	ENST00000393677.4	+	2	303	c.99A>G	c.(97-99)ccA>ccG	p.P33P	ZFYVE27_ENST00000357540.4_Silent_p.P33P|ZFYVE27_ENST00000359980.3_Silent_p.P33P|ZFYVE27_ENST00000370613.3_Silent_p.P33P|ZFYVE27_ENST00000370610.3_Intron|ZFYVE27_ENST00000337540.7_Silent_p.P33P|ZFYVE27_ENST00000356257.4_Silent_p.P33P|ZFYVE27_ENST00000453958.2_Silent_p.P33P	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	33					cell death (GO:0008219)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein localization to plasma membrane (GO:0072659)	axon (GO:0030424)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)	metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		CCAAGTCCCCAGCGTTTGACC	0.562																																						uc021pwq.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(97-99)ccA>ccG		Homo sapiens zinc finger, FYVE domain containing 27 (ZFYVE27), transcript variant 1, mRNA.							129.0	128.0	129.0					10																	99498333		2203	4300	6503	SO:0001819	synonymous_variant	118813				cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding	g.chr10:99498333A>G	BC030621	CCDS31263.1, CCDS31264.1, CCDS53562.1, CCDS53563.1, CCDS53564.1, CCDS53565.1	10q24.2	2013-09-11			ENSG00000155256	ENSG00000155256		"""Zinc fingers, FYVE domain containing"""	26559	protein-coding gene	gene with protein product	"""protrudin"""	610243				14702039	Standard	NM_144588		Approved	FLJ32919, SPG33	uc001kol.2	Q5T4F4	OTTHUMG00000018867	ENST00000393677.4:c.99A>G	10.37:g.99498333A>G			Somatic				ZFYVE27_uc001kok.2_Non-coding_Transcript|ZFYVE27_uc010qpc.2_Non-coding_Transcript|ZFYVE27_uc001kol.2_Silent_p.P33P|ZFYVE27_uc001kom.2_Silent_p.P33P|ZFYVE27_uc010qpb.2_Intron|ZFYVE27_uc010qpd.2_Silent_p.P33P|ZFYVE27_uc001koq.3_Silent_p.P33P|ZFYVE27_uc010qpa.2_Silent_p.P33P	p.P33P	NM_001002261	NP_001002261	WXS	Illumina GAIIx	Phase_I	Q5T4F4	ZFY27_HUMAN		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)	0	100	+		Colorectal(252;0.0846)	33					B7Z3S0|B7Z404|B7Z626|G8JLC3|G8JLF0|J3KP98|Q5T4F1|Q5T4F2|Q5T4F3|Q8N1K0|Q8N6D6|Q8NCA0|Q8NDE4|Q96M08	Silent	SNP	ENST00000393677.4	37	c.99A>G	CCDS31263.1																																																																																				0.562	ZFYVE27-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049745.2	NM_144588		28	60	0	0	0	1	0	28	60				
C7orf57	136288	broad.mit.edu	37	7	48086188	48086188	+	Missense_Mutation	SNP	A	A	C			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr7:48086188A>C	ENST00000348904.3	+	5	694	c.482A>C	c.(481-483)gAg>gCg	p.E161A	C7orf57_ENST00000435376.1_Missense_Mutation_p.E39A|C7orf57_ENST00000420324.1_Missense_Mutation_p.E206A|C7orf57_ENST00000430738.1_Missense_Mutation_p.E206A|C7orf57_ENST00000539619.1_Missense_Mutation_p.E161A	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	161										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						AGAGAGGCTGAGGAACTTGAA	0.463																																						uc003toh.4																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						c.(481-483)gAg>gCg		Homo sapiens chromosome 7 open reading frame 57 (C7orf57), mRNA.							48.0	45.0	46.0					7																	48086188		1938	4142	6080	SO:0001583	missense	136288							g.chr7:48086188A>C	BC031107	CCDS47583.1, CCDS59054.1, CCDS75594.1	7p12.3	2011-11-25			ENSG00000164746	ENSG00000164746			22247	protein-coding gene	gene with protein product							Standard	NM_001100159		Approved		uc003toh.5	Q8NEG2	OTTHUMG00000155808	ENST00000348904.3:c.482A>C	7.37:g.48086188A>C	ENSP00000335500:p.Glu161Ala		Somatic				C7orf57_uc003toi.4_Missense_Mutation_p.E35A	p.E161A	NM_001100159	NP_001093629	WXS	Illumina GAIIx	Phase_I	Q8NEG2	CG057_HUMAN			4	694	+			161					C9JBJ8	Missense_Mutation	SNP	ENST00000348904.3	37	c.482A>C	CCDS47583.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.343493	0.82022	.	.	ENSG00000164746	ENST00000420324;ENST00000435376;ENST00000430738;ENST00000348904;ENST00000539619	T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58	5.3	5.3	0.74995	.	0.340826	0.30437	N	0.009628	T	0.67961	0.2949	M	0.63428	1.95	0.42777	D	0.993852	D;D	0.76494	0.992;0.999	D;D	0.73380	0.933;0.98	T	0.68796	-0.5314	10	0.44086	T	0.13	-8.7211	13.4853	0.61361	1.0:0.0:0.0:0.0	.	39;161	C9JBJ8;Q8NEG2	.;CG057_HUMAN	A	206;39;206;161;161	ENSP00000394648:E206A;ENSP00000391652:E39A;ENSP00000410944:E206A;ENSP00000335500:E161A;ENSP00000442474:E161A	ENSP00000335500:E161A	E	+	2	0	C7orf57	48052713	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	5.746000	0.68681	2.126000	0.65437	0.459000	0.35465	GAG		0.463	C7orf57-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341745.1	NM_001100159		5	12	0	0	0	1	0	5	12				
CPS1	1373	broad.mit.edu	37	2	211457603	211457604	+	Splice_Site	DNP	GG	GG	AA			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr2:211457603_211457604GG>AA	ENST00000233072.5	+	11	1283_1284	c.1087_1088GG>AA	c.(1087-1089)GGg>AAg	p.G363K	CPS1_ENST00000430249.2_Splice_Site_p.G369K|CPS1_ENST00000451903.2_5'Flank	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	363	Glutamine amidotransferase type-1.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	ATTCCTTTAGGGGATTATGCAT	0.421																																						uc010fur.3																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.e12-1		Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.																																				SO:0001630	splice_region_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211457603_211457604GG>AA	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	Exception_encountered	2.37:g.211457603_211457604delinsAA			Somatic				CPS1_uc002vee.4_Splice_Site_p.G363_splice|CPS1_uc010fus.3_5'Flank	p.G369_splice	NM_001122633	NP_001116105	WXS	Illumina GAIIx	Phase_I	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	12	1187	+			363			Glutamine amidotransferase type-1.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Splice_Site	DNP	ENST00000233072.5	37	c.1105_splice	CCDS2393.1																																																																																				0.421	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		Missense_Mutation	26	58	0	0	0	1	0	26	58				
PCGF2	7703	broad.mit.edu	37	17	36895858	36895858	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr17:36895858G>A	ENST00000580830.1	-	5	891	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	PCGF2_ENST00000360797.2_Missense_Mutation_p.R64W|PCGF2_ENST00000585100.1_Missense_Mutation_p.R64W|PCGF2_ENST00000579882.1_Missense_Mutation_p.R64W|PCGF2_ENST00000578109.1_Missense_Mutation_p.R10W|PCGF2_ENST00000581345.1_Missense_Mutation_p.R64W			P35227	PCGF2_HUMAN	polycomb group ring finger 2	64					anterior/posterior pattern specification (GO:0009952)|cellular response to hydrogen peroxide (GO:0070301)|embryonic skeletal system morphogenesis (GO:0048704)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R64W(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					AGCAGCGGCCGGGTTTTATGG	0.617																																						uc002hqp.1																			1	Substitution - Missense(1)	p.R64W(2)	central_nervous_system(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(190-192)Cgg>Tgg		Homo sapiens polycomb group ring finger 2 (PCGF2), mRNA.							145.0	117.0	127.0					17																	36895858		2203	4300	6503	SO:0001583	missense	7703				negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:36895858G>A	D13969	CCDS32638.1	17q12	2013-01-09	2005-01-17	2005-01-19		ENSG00000277258		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	12929	protein-coding gene	gene with protein product		600346	"""ring finger protein 110"""	ZNF144, RNF110		8325509	Standard	NM_007144		Approved	MEL-18	uc002hqp.1	P35227		ENST00000580830.1:c.190C>T	17.37:g.36895858G>A	ENSP00000461961:p.Arg64Trp		Somatic					p.R64W	NM_007144	NP_009075	WXS	Illumina GAIIx	Phase_I	P35227	PCGF2_HUMAN			3	436	-	Breast(7;9.07e-22)		64					A6NGD8	Missense_Mutation	SNP	ENST00000580830.1	37	c.190C>T	CCDS32638.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.421315	0.25639	.	.	ENSG00000056661	ENST00000360797	T	0.43294	0.95	4.56	2.5	0.30297	Zinc finger, RING/FYVE/PHD-type (1);	0.070142	0.64402	D	0.000017	T	0.42449	0.1203	M	0.68952	2.095	0.40076	D	0.976072	D	0.62365	0.991	P	0.44860	0.462	T	0.42766	-0.9432	10	0.46703	T	0.11	-9.2425	11.0498	0.47880	0.0:0.0:0.6189:0.3811	.	64	P35227	PCGF2_HUMAN	W	64	ENSP00000354033:R64W	ENSP00000354033:R64W	R	-	1	2	PCGF2	34149384	0.009000	0.17119	0.520000	0.27837	0.916000	0.54674	0.548000	0.23314	0.478000	0.27488	0.491000	0.48974	CGG		0.617	PCGF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442246.2	NM_007144		32	96	0	0	0	1	0	32	96				
SCAF1	58506	broad.mit.edu	37	19	50154329	50154329	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr19:50154329A>G	ENST00000360565.3	+	7	807	c.683A>G	c.(682-684)tAt>tGt	p.Y228C		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	228	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TTCGATATCTATGACCCCTTC	0.657																																						uc002poq.3																			0		p.I227N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20						c.(682-684)tAt>tGt		Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.							32.0	33.0	33.0					19																	50154329		2200	4295	6495	SO:0001583	missense	58506				RNA splicing|mRNA processing	nucleus	RNA binding	g.chr19:50154329A>G	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.683A>G	19.37:g.50154329A>G	ENSP00000353769:p.Tyr228Cys		Somatic					p.Y228C	NM_021228	NP_067051	WXS	Illumina GAIIx	Phase_I	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	6	807	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	228			Pro-rich.		Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP	ENST00000360565.3	37	c.683A>G	CCDS33074.1	.	.	.	.	.	.	.	.	.	.	a	8.940	0.965514	0.18583	.	.	ENSG00000126461	ENST00000360565	T	0.57752	0.38	4.25	4.25	0.50352	.	0.575691	0.13235	N	0.403293	T	0.57066	0.2028	N	0.19112	0.55	0.42162	D	0.991602	D	0.89917	1.0	D	0.87578	0.998	T	0.52064	-0.8625	9	.	.	.	-0.2675	12.798	0.57569	1.0:0.0:0.0:0.0	.	228	Q9H7N4	SFR19_HUMAN	C	228	ENSP00000353769:Y228C	.	Y	+	2	0	SCAF1	54846141	1.000000	0.71417	0.998000	0.56505	0.335000	0.28730	4.481000	0.60250	1.913000	0.55393	0.525000	0.51046	TAT		0.657	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		27	52	0	0	0	1	0	27	52				
ZNF613	79898	broad.mit.edu	37	19	52443516	52443516	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr19:52443516C>T	ENST00000293471.6	+	4	749	c.70C>T	c.(70-72)Ctc>Ttc	p.L24F	ZNF613_ENST00000391794.4_5'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	24	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		GGAGTGGCAGCTCCTCGGCCC	0.512																																						uc002pxz.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(70-72)Ctc>Ttc		Homo sapiens zinc finger protein 613 (ZNF613), transcript variant 1, mRNA.							127.0	121.0	123.0					19																	52443516		2203	4300	6503	SO:0001583	missense	79898				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52443516C>T	AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.70C>T	19.37:g.52443516C>T	ENSP00000293471:p.Leu24Phe		Somatic				ZNF613_uc002pya.2_5'UTR	p.L24F	NM_001031721	NP_079116	WXS	Illumina GAIIx	Phase_I	Q6PF04	ZN613_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)	3	534	+		all_neural(266;0.117)	24			KRAB.		Q96SS9	Missense_Mutation	SNP	ENST00000293471.6	37	c.70C>T	CCDS33089.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898002	0.52227	.	.	ENSG00000176024	ENST00000293471	T	0.02177	4.41	3.32	3.32	0.38043	Krueppel-associated box (4);	0.000000	0.32416	N	0.006122	T	0.04092	0.0114	M	0.68593	2.085	0.80722	D	1	P	0.38617	0.64	B	0.38985	0.287	T	0.48422	-0.9037	10	0.41790	T	0.15	.	12.0854	0.53693	0.0:1.0:0.0:0.0	.	24	Q6PF04	ZN613_HUMAN	F	24	ENSP00000293471:L24F	ENSP00000293471:L24F	L	+	1	0	ZNF613	57135328	0.986000	0.35501	1.000000	0.80357	0.978000	0.69477	0.542000	0.23222	1.879000	0.54435	0.650000	0.86243	CTC		0.512	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840		52	78	0	0	0	1	0	52	78				
C1orf56	54964	broad.mit.edu	37	1	151020356	151020356	+	Silent	SNP	C	C	T	rs371135744		TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr1:151020356C>T	ENST00000368926.5	+	1	141	c.33C>T	c.(31-33)gtC>gtT	p.V11V		NM_017860.3	NP_060330.2	Q9BUN1	MENT_HUMAN	chromosome 1 open reading frame 56	11						cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGCTGTGGGTCCTGCTGCTGA	0.697																																					GBM(146;891 3320 6873)	uc001ewn.3																			0				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						c.(31-33)gtC>gtT		Homo sapiens chromosome 1 open reading frame 56 (C1orf56), mRNA.							7.0	9.0	8.0					1																	151020356		2099	4168	6267	SO:0001819	synonymous_variant	54964					extracellular region		g.chr1:151020356C>T	BC002469	CCDS980.1	1q21.2	2013-09-20			ENSG00000143443	ENSG00000143443			26045	protein-coding gene	gene with protein product	"""methylated in normal thymocytes"""					12975309, 22133874	Standard	NM_017860		Approved	FLJ20519, MENT	uc001ewn.3	Q9BUN1	OTTHUMG00000035159	ENST00000368926.5:c.33C>T	1.37:g.151020356C>T			Somatic				C1orf56_uc021oyi.1_Silent_p.V11V	p.V11V	NM_017860	NP_060330	WXS	Illumina GAIIx	Phase_I	Q9BUN1	CA056_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		0	98	+	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		11					B2RDU8|Q9NWZ4	Silent	SNP	ENST00000368926.5	37	c.33C>T	CCDS980.1																																																																																				0.697	C1orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085101.1	NM_017860		9	31	0	0	0	1	0	9	31				
DSTYK	25778	broad.mit.edu	37	1	205138578	205138578	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr1:205138578A>T	ENST00000367162.3	-	3	1067	c.1037T>A	c.(1036-1038)tTt>tAt	p.F346Y	DSTYK_ENST00000367160.4_Missense_Mutation_p.F346Y|DSTYK_ENST00000367161.3_Missense_Mutation_p.F346Y	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	346					cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						CTGGTGAGAAAATGTGCTCAA	0.522																																						uc001hbw.3																			0		p.M346T(1)		breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						c.(1036-1038)tTt>tAt		Homo sapiens dual serine/threonine and tyrosine protein kinase (DSTYK), transcript variant 1, mRNA.							95.0	93.0	94.0					1																	205138578		2203	4300	6503	SO:0001583	missense	25778					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:205138578A>T	AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"""receptor interacting protein kinase 5"""	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.1037T>A	1.37:g.205138578A>T	ENSP00000356130:p.Phe346Tyr		Somatic				DSTYK_uc001hbx.3_Missense_Mutation_p.F346Y|DSTYK_uc001hby.1_Intron	p.F346Y	NM_015375	NP_056190	WXS	Illumina GAIIx	Phase_I	Q6XUX3	DUSTY_HUMAN			2	1101	-			346					B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Missense_Mutation	SNP	ENST00000367162.3	37	c.1037T>A	CCDS1451.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.795664	0.90453	.	.	ENSG00000133059	ENST00000367160;ENST00000367161;ENST00000367162	D;D;D	0.83335	-1.71;-1.66;-1.66	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.90601	0.7053	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	D	0.91753	0.5414	10	0.87932	D	0	-15.9579	15.2544	0.73573	1.0:0.0:0.0:0.0	.	346;346	Q6XUX3-2;Q6XUX3	.;DUSTY_HUMAN	Y	346	ENSP00000356128:F346Y;ENSP00000356129:F346Y;ENSP00000356130:F346Y	ENSP00000356128:F346Y	F	-	2	0	DSTYK	203405201	1.000000	0.71417	0.965000	0.40720	0.941000	0.58515	8.959000	0.93110	2.076000	0.62316	0.533000	0.62120	TTT		0.522	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375		5	101	0	0	0	1	0	5	101				
AXIN2	8313	broad.mit.edu	37	17	63554510	63554510	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr17:63554510G>A	ENST00000375702.5	-	1	337	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	AXIN2_ENST00000307078.5_Missense_Mutation_p.R77W|CTD-2535L24.2_ENST00000577662.1_3'UTR			Q9Y2T1	AXIN2_HUMAN	axin 2	77					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						TTGGTCCACCGGGTCAGAGGG	0.572									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													uc002jfi.3																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(229-231)Cgg>Tgg		Homo sapiens axin 2 (AXIN2), mRNA.							93.0	92.0	93.0					17																	63554510		2203	4300	6503	SO:0001583	missense	8313	Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	Wnt receptor signaling pathway involved in somitogenesis|cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|mRNA stabilization|maintenance of DNA repeat elements|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	GTPase activator activity|armadillo repeat domain binding|beta-catenin binding|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63554510G>A	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.229C>T	17.37:g.63554510G>A	ENSP00000364854:p.Arg77Trp		Somatic				AXIN2_uc010den.1_Missense_Mutation_p.R77W|AXIN2_uc002jfh.3_Missense_Mutation_p.R77W|AXIN2_uc002jfj.1_Missense_Mutation_p.R77W	p.R77W	NM_004655	NP_004646	WXS	Illumina GAIIx	Phase_I	Q9Y2T1	AXIN2_HUMAN			1	518	-			77					Q3MJ88|Q9H3M6|Q9UH84	Missense_Mutation	SNP	ENST00000375702.5	37	c.229C>T		.	.	.	.	.	.	.	.	.	.	G	10.35	1.327007	0.24080	.	.	ENSG00000168646	ENST00000307078;ENST00000544103;ENST00000375702	T;T;T	0.25579	1.79;1.79;1.79	4.73	0.901	0.19284	Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.47173	0.1431	M	0.71036	2.16	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.999	T	0.49762	-0.8905	10	0.87932	D	0	-24.7678	13.1749	0.59621	0.0:0.0:0.6675:0.3325	.	77;77;77	B7ZKL5;Q9Y2T1;E7ES00	.;AXIN2_HUMAN;.	W	77	ENSP00000302625:R77W;ENSP00000441151:R77W;ENSP00000364854:R77W	ENSP00000302625:R77W	R	-	1	2	AXIN2	60984972	0.998000	0.40836	0.998000	0.56505	0.964000	0.63967	0.519000	0.22862	0.170000	0.19704	-0.425000	0.05940	CGG		0.572	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		4	90	0	0	0	1	0	4	90				
FLT3LG	2323	broad.mit.edu	37	19	49979779	49979779	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr19:49979779C>T	ENST00000594009.1	+	4	377	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	FLT3LG_ENST00000597551.1_Missense_Mutation_p.R100C|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000344019.3_Missense_Mutation_p.R100C|FLT3LG_ENST00000600429.1_Missense_Mutation_p.R100C|FLT3LG_ENST00000204637.2_Missense_Mutation_p.R18C|FLT3LG_ENST00000595510.1_Missense_Mutation_p.R18C|CTD-3148I10.15_ENST00000595815.1_RNA|FLT3LG_ENST00000596435.1_Missense_Mutation_p.R100C	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	100					embryonic hemopoiesis (GO:0035162)|lymphocyte differentiation (GO:0030098)|positive regulation of cell proliferation (GO:0008284)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|membrane (GO:0016020)	receptor binding (GO:0005102)			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CTTGCTGGAGCGCGTGAACAC	0.592											OREG0025623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002pnu.3																			0				large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10						c.(298-300)Cgc>Tgc		Homo sapiens fms-related tyrosine kinase 3 ligand (FLT3LG), transcript variant 3, mRNA.							84.0	74.0	77.0					19																	49979779		2203	4300	6503	SO:0001583	missense	2323				positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity	g.chr19:49979779C>T	U04806	CCDS12767.1, CCDS62753.1	19q13.3	2014-01-30				ENSG00000090554		"""Endogenous ligands"""	3766	protein-coding gene	gene with protein product		600007				8145851, 7824267	Standard	NM_001204502		Approved		uc010yau.2	P49771		ENST00000594009.1:c.298C>T	19.37:g.49979779C>T	ENSP00000469613:p.Arg100Cys		Somatic	OREG0025623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	966	FLT3LG_uc002pnw.3_Missense_Mutation_p.R18C|FLT3LG_uc010yau.2_Missense_Mutation_p.R100C|FLT3LG_uc002pnv.3_Missense_Mutation_p.R18C|FLT3LG_uc002pnx.3_Missense_Mutation_p.R100C|FLT3LG_uc010yav.2_Missense_Mutation_p.R18C	p.R100C	NM_001459	NP_001450	WXS	Illumina GAIIx	Phase_I	P49771	FLT3L_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)	4	408	+		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	100					A0AVC2|B9EGH2|Q05C96	Missense_Mutation	SNP	ENST00000594009.1	37	c.298C>T	CCDS12767.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.939946	0.34283	.	.	ENSG00000090554	ENST00000204637;ENST00000344019	.	.	.	4.3	-1.54	0.08584	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.158280	0.06395	N	0.717773	T	0.18676	0.0448	N	0.14661	0.345	0.09310	N	0.999998	P	0.49635	0.926	P	0.44561	0.453	T	0.17715	-1.0360	9	0.62326	D	0.03	-3.6523	4.1567	0.10265	0.4224:0.1872:0.3904:0.0	.	100	P49771	FLT3L_HUMAN	C	100	.	ENSP00000204637:R100C	R	+	1	0	FLT3LG	54671591	0.015000	0.18098	0.025000	0.17156	0.420000	0.31355	-0.121000	0.10643	-0.047000	0.13423	-0.333000	0.08304	CGC		0.592	FLT3LG-007	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465305.1			13	51	0	0	0	1	0	13	51				
ZNF497	162968	broad.mit.edu	37	19	58868467	58868467	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr19:58868467G>C	ENST00000311044.3	-	3	723	c.535C>G	c.(535-537)Cac>Gac	p.H179D	A1BG-AS1_ENST00000594950.1_RNA|CTD-2619J13.9_ENST00000599952.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|ZNF497_ENST00000425453.3_Missense_Mutation_p.H179D|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000593960.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	179					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		TCCTGGTGGTGGATGAGCTGC	0.677																																						uc002qsh.2																			0				central_nervous_system(2)|lung(3)|skin(2)	7						c.(535-537)Cac>Gac		Homo sapiens zinc finger protein 497 (ZNF497), mRNA.							28.0	23.0	25.0					19																	58868467		2203	4298	6501	SO:0001583	missense	162968				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58868467G>C	AK126727	CCDS12977.1	19q13.43	2013-01-08			ENSG00000174586	ENSG00000174586		"""Zinc fingers, C2H2-type"""	23714	protein-coding gene	gene with protein product							Standard	NM_198458		Approved	FLJ44773	uc002qsi.2	Q6ZNH5		ENST00000311044.3:c.535C>G	19.37:g.58868467G>C	ENSP00000311183:p.His179Asp		Somatic				A1BG_uc002qsf.2_Intron|ZNF497_uc002qsi.2_Missense_Mutation_p.H179D|ZNF497_uc021vcw.1_Missense_Mutation_p.H179D|BC023201_uc002qsj.1_5'UTR|BC023201_uc002qsk.1_5'Flank	p.H179D	NM_198458	NP_940860	WXS	Illumina GAIIx	Phase_I	Q6ZNH5	ZN497_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)	2	818	-		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	179					Q05AG8|Q0VF48|Q6ZTD2|Q9UIA8	Missense_Mutation	SNP	ENST00000311044.3	37	c.535C>G	CCDS12977.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.594284	0.28445	.	.	ENSG00000174586	ENST00000311044;ENST00000425453;ENST00000391697	T;T	0.49720	0.77;0.77	0.62	0.62	0.17637	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20740	0.0499	N	0.04203	-0.255	0.21290	N	0.999736	B	0.27117	0.168	B	0.30943	0.122	T	0.29882	-0.9997	9	0.13108	T	0.6	.	4.6194	0.12442	0.0:0.0:0.4183:0.5817	.	179	Q6ZNH5	ZN497_HUMAN	D	179;179;24	ENSP00000311183:H179D;ENSP00000402815:H179D	ENSP00000311183:H179D	H	-	1	0	ZNF497	63560279	0.000000	0.05858	0.793000	0.32043	0.769000	0.43574	-0.538000	0.06120	0.576000	0.29452	0.205000	0.17691	CAC		0.677	ZNF497-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466942.2	NM_198458		8	22	0	0	0	1	0	8	22				
SGSM2	9905	broad.mit.edu	37	17	2279468	2279468	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr17:2279468G>A	ENST00000426855.2	+	18	2562	c.2387G>A	c.(2386-2388)cGc>cAc	p.R796H	SGSM2_ENST00000574563.1_Missense_Mutation_p.R796H|RP1-59D14.5_ENST00000573007.1_RNA|SGSM2_ENST00000268989.3_Missense_Mutation_p.R841H|RP1-59D14.5_ENST00000574290.1_RNA	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	796	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		AACCTGCACCGCATAGACAAG	0.597																																						uc002fum.4																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2521-2523)cGc>cAc		Homo sapiens small G protein signaling modulator 2 (SGSM2), transcript variant 1, mRNA.							113.0	95.0	101.0					17																	2279468		2203	4300	6503	SO:0001583	missense	9905					intracellular	Rab GTPase activator activity	g.chr17:2279468G>A	BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"""Small G protein signaling modulators"""	29026	protein-coding gene	gene with protein product		611418	"""RUN and TBC1 domain containing 1"""	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.2387G>A	17.37:g.2279468G>A	ENSP00000415107:p.Arg796His		Somatic				SGSM2_uc002fun.4_Missense_Mutation_p.R796H|SGSM2_uc010vqw.2_Missense_Mutation_p.R796H|SGSM2_uc002fuq.3_5'Flank	p.R841H	NM_014853	NP_055668	WXS	Illumina GAIIx	Phase_I	O43147	SGSM2_HUMAN		Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)	18	2699	+			796			Rab-GAP TBC.		A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Missense_Mutation	SNP	ENST00000426855.2	37	c.2522G>A	CCDS45570.1	.	.	.	.	.	.	.	.	.	.	g	36	5.675377	0.96764	.	.	ENSG00000141258	ENST00000268989;ENST00000426855	T;T	0.11604	2.76;2.76	5.3	5.3	0.74995	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.46151	0.1378	H	0.94423	3.535	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.72338	0.977;0.966;0.95	T	0.61505	-0.7049	10	0.72032	D	0.01	-11.7312	17.9521	0.89057	0.0:0.0:1.0:0.0	.	796;796;841	O43147-5;O43147;O43147-2	.;SGSM2_HUMAN;.	H	841;796	ENSP00000268989:R841H;ENSP00000415107:R796H	ENSP00000268989:R841H	R	+	2	0	SGSM2	2226218	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.832000	0.99423	2.508000	0.84585	0.651000	0.88453	CGC		0.597	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853		4	93	0	0	0	1	0	4	93				
BTBD3	22903	broad.mit.edu	37	20	11904148	11904148	+	Missense_Mutation	SNP	C	C	T	rs370789350		TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr20:11904148C>T	ENST00000405977.1	+	5	2028	c.1403C>T	c.(1402-1404)aCa>aTa	p.T468I	BTBD3_ENST00000399006.2_Missense_Mutation_p.T407I|BTBD3_ENST00000378226.2_Missense_Mutation_p.T468I|BTBD3_ENST00000254977.3_Missense_Mutation_p.T407I	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	468					cerebral cortex development (GO:0021987)|dendrite morphogenesis (GO:0048813)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						ACCTTCTACACAGCCAGTGTG	0.493																																						uc002wnz.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						c.(1402-1404)aCa>aTa		Homo sapiens BTB (POZ) domain containing 3 (BTBD3), transcript variant 1, mRNA.		C	ILE/THR,ILE/THR	2,4404	4.2+/-10.8	0,2,2201	127.0	113.0	118.0		1403,1220	6.0	1.0	20		118	0,8600		0,0,4300	no	missense,missense	BTBD3	NM_014962.2,NM_181443.1	89,89	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging	468/523,407/462	11904148	2,13004	2203	4300	6503	SO:0001583	missense	22903							g.chr20:11904148C>T	AB023169	CCDS13113.1, CCDS13114.1	20p12.2	2013-01-08			ENSG00000132640	ENSG00000132640		"""BTB/POZ domain containing"""	15854	protein-coding gene	gene with protein product		615566					Standard	NM_001282551		Approved	KIAA0952, dJ742J24.1	uc002wnz.3	Q9Y2F9	OTTHUMG00000031889	ENST00000405977.1:c.1403C>T	20.37:g.11904148C>T	ENSP00000384545:p.Thr468Ile		Somatic				BTBD3_uc002wny.3_Missense_Mutation_p.T407I|BTBD3_uc002woa.3_Missense_Mutation_p.T407I|BTBD3_uc010zrf.2_Missense_Mutation_p.T317I|BTBD3_uc010zrg.2_Missense_Mutation_p.T317I|BTBD3_uc010zrh.2_Missense_Mutation_p.T317I	p.T468I	NM_014962	NP_852108	WXS	Illumina GAIIx	Phase_I	Q9Y2F9	BTBD3_HUMAN			3	1762	+			468					D3DW19|Q5JY73	Missense_Mutation	SNP	ENST00000405977.1	37	c.1403C>T	CCDS13113.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872487	0.72180	4.54E-4	0.0	ENSG00000132640	ENST00000254977;ENST00000399006;ENST00000405977;ENST00000378226	T;T;T;T	0.79749	-1.27;-1.27;-1.3;-1.3	6.02	6.02	0.97574	PHR (1);	0.000000	0.85682	D	0.000000	D	0.89546	0.6746	M	0.73962	2.25	0.80722	D	1	D	0.63046	0.992	D	0.68483	0.958	D	0.88334	0.2970	10	0.48119	T	0.1	.	19.5289	0.95219	0.0:1.0:0.0:0.0	.	468	Q9Y2F9	BTBD3_HUMAN	I	407;407;468;468	ENSP00000254977:T407I;ENSP00000381971:T407I;ENSP00000384545:T468I;ENSP00000367471:T468I	ENSP00000254977:T407I	T	+	2	0	BTBD3	11852148	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.865000	0.98341	0.655000	0.94253	ACA		0.493	BTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078021.3			10	33	0	0	0	1	0	10	33				
OBSCN	84033	broad.mit.edu	37	1	228465534	228465534	+	Silent	SNP	A	A	G			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr1:228465534A>G	ENST00000422127.1	+	25	6878	c.6834A>G	c.(6832-6834)gaA>gaG	p.E2278E	RP5-1139B12.3_ENST00000602947.1_RNA|OBSCN_ENST00000570156.2_Silent_p.E2707E|OBSCN_ENST00000359599.6_Silent_p.E1125E|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.E2278E|RP5-1139B12.3_ENST00000602529.1_RNA	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2278					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AAAATGCAGAATCGCGAGCCC	0.617																																						uc009xez.1																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(6832-6834)gaA>gaG		Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.							63.0	64.0	64.0					1																	228465534		1905	4122	6027	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding	g.chr1:228465534A>G	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.6834A>G	1.37:g.228465534A>G			Somatic				OBSCN_uc001hsn.3_Silent_p.E2278E|OBSCN_uc001hsp.1_5'UTR|OBSCN_uc001hsq.1_5'Flank	p.E2278E	NM_001098623	NP_001092093	WXS	Illumina GAIIx	Phase_I	Q5VST9	OBSCN_HUMAN			24	6878	+		Prostate(94;0.0405)	2278					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.6834A>G	CCDS58065.1																																																																																				0.617	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		26	195	0	0	0	1	0	26	195				
NFATC1	4772	broad.mit.edu	37	18	77171140	77171140	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr18:77171140G>A	ENST00000427363.2	+	2	865	c.865G>A	c.(865-867)Ggc>Agc	p.G289S	NFATC1_ENST00000318065.5_Missense_Mutation_p.G276S|NFATC1_ENST00000586434.1_Missense_Mutation_p.G276S|NFATC1_ENST00000592223.1_Missense_Mutation_p.G276S|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Missense_Mutation_p.G289S|NFATC1_ENST00000542384.1_Missense_Mutation_p.G289S|NFATC1_ENST00000591814.1_Missense_Mutation_p.G289S|NFATC1_ENST00000329101.4_Missense_Mutation_p.G276S|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000253506.5_Missense_Mutation_p.G289S			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	289	3 X SP repeats.				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	GTCCCCGCACGGCTCCCCGCG	0.687																																					GBM(151;1210 2593 28719 45011)	uc010xfg.2																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40						c.(865-867)Ggc>Agc		Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.							32.0	30.0	31.0					18																	77171140		2185	4269	6454	SO:0001583	missense	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77171140G>A	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.865G>A	18.37:g.77171140G>A	ENSP00000389377:p.Gly289Ser		Somatic				NFATC1_uc002lnc.1_Missense_Mutation_p.G289S|NFATC1_uc010xff.1_Missense_Mutation_p.G289S|NFATC1_uc002lnd.3_Missense_Mutation_p.G289S|NFATC1_uc002lne.3_Intron|NFATC1_uc010xfh.2_Missense_Mutation_p.G289S|NFATC1_uc010xfi.1_Missense_Mutation_p.G276S|NFATC1_uc010xfj.2_Intron|NFATC1_uc002lnf.3_Missense_Mutation_p.G276S|NFATC1_uc002lng.3_Missense_Mutation_p.G276S|NFATC1_uc010xfk.2_Missense_Mutation_p.G276S	p.G289S	NM_006162	NP_006153	WXS	Illumina GAIIx	Phase_I	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	1	1318	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	289			3 X SP repeats.		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	37	c.865G>A		.	.	.	.	.	.	.	.	.	.	G	3.702	-0.061371	0.07317	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T;T	0.73789	2.7;-0.78;-0.78;-0.78	4.96	2.88	0.33553	.	0.587759	0.18930	N	0.127243	T	0.43433	0.1247	N	0.08118	0	0.18873	N	0.999983	B;B;B;B;B;B;B	0.23442	0.048;0.048;0.012;0.085;0.085;0.04;0.022	B;B;B;B;B;B;B	0.14578	0.007;0.007;0.007;0.011;0.011;0.006;0.007	T	0.37174	-0.9717	10	0.02654	T	1	-34.4255	4.5549	0.12131	0.5569:0.0:0.4431:0.0	.	276;276;289;289;289;276;289	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	S	289;289;289;276;276;253	ENSP00000316553:G289S;ENSP00000253506:G289S;ENSP00000442435:G289S;ENSP00000327850:G276S	ENSP00000253506:G289S	G	+	1	0	NFATC1	75272128	0.006000	0.16342	0.832000	0.32986	0.790000	0.44656	1.594000	0.36697	1.185000	0.42971	0.591000	0.81541	GGC		0.687	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		39	64	0	0	0	1	0	39	64				
HK3	3101	broad.mit.edu	37	5	176311066	176311066	+	Silent	SNP	A	A	G			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr5:176311066A>G	ENST00000292432.5	-	14	2018	c.1927T>C	c.(1927-1929)Ttg>Ctg	p.L643L		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	643	Catalytic.|Hexokinase type-1 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTTCCCGCAACAGACTCACG	0.577																																						uc003mfa.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1927-1929)Ttg>Ctg		Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.							153.0	150.0	151.0					5																	176311066		2203	4300	6503	SO:0001819	synonymous_variant	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176311066A>G		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.1927T>C	5.37:g.176311066A>G			Somatic				HK3_uc003mez.3_Silent_p.L199L	p.L643L	NM_002115	NP_002106	WXS	Illumina GAIIx	Phase_I	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	2019	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	643			Catalytic.		Q8N1E7	Silent	SNP	ENST00000292432.5	37	c.1927T>C	CCDS4407.1																																																																																				0.577	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			47	81	0	0	0	1	0	47	81				
OR5D13	390142	broad.mit.edu	37	11	55541409	55541409	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr11:55541409C>A	ENST00000361760.1	+	1	496	c.496C>A	c.(496-498)Ctt>Att	p.L166I		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				ATATTTTCTTCTTGACTTATC	0.423																																						uc010ril.2																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(496-498)Ctt>Att		Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.							147.0	144.0	145.0					11																	55541409		2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541409C>A	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.496C>A	11.37:g.55541409C>A	ENSP00000354800:p.Leu166Ile		Somatic					p.L166I	NM_001001967	NP_001001967	WXS	Illumina GAIIx	Phase_I	Q8NGL4	OR5DD_HUMAN			0	496	+		all_epithelial(135;0.196)	166					Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.496C>A	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	C	8.538	0.872610	0.17322	.	.	ENSG00000198877	ENST00000361760	T	0.00211	8.54	3.3	-1.12	0.09808	GPCR, rhodopsin-like superfamily (1);	0.000000	0.27072	U	0.021064	T	0.00210	0.0006	L	0.57536	1.79	0.09310	N	1	P	0.40144	0.704	P	0.44811	0.461	T	0.41698	-0.9494	10	0.66056	D	0.02	-10.9169	7.6621	0.28409	0.0:0.4498:0.0:0.5502	.	166	Q8NGL4	OR5DD_HUMAN	I	166	ENSP00000354800:L166I	ENSP00000354800:L166I	L	+	1	0	OR5D13	55297985	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.626000	0.00874	-0.324000	0.08589	-0.400000	0.06385	CTT		0.423	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		24	65	0	0	0	1	0	24	65				
SOAT1	6646	broad.mit.edu	37	1	179310209	179310209	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr1:179310209C>T	ENST00000367619.3	+	7	687	c.544C>T	c.(544-546)Cct>Tct	p.P182S	SOAT1_ENST00000540564.1_Missense_Mutation_p.P124S|SOAT1_ENST00000535686.1_5'UTR|SOAT1_ENST00000539888.1_Missense_Mutation_p.P117S	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	182					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	TGGCAAATTTCCTACCGTTGT	0.418																																						uc001gml.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20						c.(544-546)Cct>Tct		Homo sapiens sterol O-acyltransferase 1 (SOAT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Ezetimibe(DB00973)|Hesperetin(DB01094)						144.0	134.0	138.0					1																	179310209		2203	4300	6503	SO:0001583	missense	6646				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol O-acyltransferase activity|cholesterol binding|fatty-acyl-CoA binding	g.chr1:179310209C>T	L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"""acyl-Coenzyme A: cholesterol acyltransferase"""	102642	"""sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"""	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.544C>T	1.37:g.179310209C>T	ENSP00000356591:p.Pro182Ser		Somatic				SOAT1_uc010pni.2_Missense_Mutation_p.P117S|SOAT1_uc001gmm.3_Missense_Mutation_p.P124S|SOAT1_uc010pnj.2_5'UTR|SOAT1_uc010pnk.2_Missense_Mutation_p.P117S	p.P182S	NM_003101	NP_003092	WXS	Illumina GAIIx	Phase_I	P35610	SOAT1_HUMAN			6	775	+			182					A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Missense_Mutation	SNP	ENST00000367619.3	37	c.544C>T	CCDS1330.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.610549	0.28712	.	.	ENSG00000057252	ENST00000539888;ENST00000540564;ENST00000367619;ENST00000426956	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	5.96	0.762	0.18454	.	0.191758	0.56097	N	0.000023	T	0.12347	0.0300	L	0.39566	1.225	0.80722	D	1	B;B	0.18013	0.003;0.025	B;B	0.24269	0.021;0.052	T	0.21245	-1.0251	10	0.07813	T	0.8	-14.7085	5.0192	0.14352	0.264:0.528:0.0:0.208	.	124;182	A8K3P4;P35610	.;SOAT1_HUMAN	S	117;124;182;182	ENSP00000441356:P117S;ENSP00000445315:P124S;ENSP00000356591:P182S;ENSP00000411309:P182S	ENSP00000356591:P182S	P	+	1	0	SOAT1	177576832	0.002000	0.14202	0.000000	0.03702	0.975000	0.68041	0.435000	0.21510	-0.102000	0.12197	0.655000	0.94253	CCT		0.418	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2	NM_003101		43	48	0	0	0	1	0	43	48				
PKHD1	5314	broad.mit.edu	37	6	51921515	51921515	+	Silent	SNP	G	G	A			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr6:51921515G>A	ENST00000371117.3	-	18	1949	c.1674C>T	c.(1672-1674)ctC>ctT	p.L558L	PKHD1_ENST00000340994.4_Silent_p.L558L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	558					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATCCAAGCCGGAGAAGGATGT	0.393																																						uc003pah.1																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(1672-1674)ctC>ctT		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.							131.0	137.0	135.0					6																	51921515		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51921515G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.1674C>T	6.37:g.51921515G>A			Somatic				PKHD1_uc003pai.3_Silent_p.L558L	p.L558L	NM_138694	NP_619639	WXS	Illumina GAIIx	Phase_I	P08F94	PKHD1_HUMAN			17	1950	-	Lung NSC(77;0.0605)		558					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.1674C>T	CCDS4935.1																																																																																				0.393	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		24	54	0	0	0	1	0	24	54				
DDX42	11325	broad.mit.edu	37	17	61885116	61885116	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr17:61885116G>A	ENST00000578681.1	+	10	1480	c.879G>A	c.(877-879)atG>atA	p.M293I	DDX42_ENST00000583590.1_Missense_Mutation_p.M293I|DDX42_ENST00000359353.5_Missense_Mutation_p.M174I|DDX42_ENST00000389924.2_Missense_Mutation_p.M293I|DDX42_ENST00000457800.2_Missense_Mutation_p.M293I	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	293	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						GTAGAGACATGATTGGTATTG	0.413																																						uc002jbu.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						c.(877-879)atG>atA		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 (DDX42), transcript variant 1, mRNA.							170.0	160.0	163.0					17																	61885116		2203	4300	6503	SO:0001583	missense	11325				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding	g.chr17:61885116G>A	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.879G>A	17.37:g.61885116G>A	ENSP00000464050:p.Met293Ile		Somatic				DDX42_uc002jbv.3_Missense_Mutation_p.M293I|DDX42_uc002jbw.1_Missense_Mutation_p.M29I|DDX42_uc002jbx.3_Missense_Mutation_p.M29I	p.M293I	NM_007372	NP_987095	WXS	Illumina GAIIx	Phase_I	Q86XP3	DDX42_HUMAN			9	1136	+			293			Helicase ATP-binding.		A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	ENST00000578681.1	37	c.879G>A	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.902578	0.33628	.	.	ENSG00000198231	ENST00000389924;ENST00000457800;ENST00000359353	T;T	0.13538	2.58;2.58	5.93	5.93	0.95920	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.070845	0.85682	D	0.000000	T	0.07098	0.0180	N	0.02334	-0.595	0.80722	D	1	B	0.12013	0.005	B	0.10450	0.005	T	0.44251	-0.9340	10	0.16896	T	0.51	-15.5813	19.3421	0.94347	0.0:0.0:1.0:0.0	.	293	Q86XP3	DDX42_HUMAN	I	293;293;29	ENSP00000374574:M293I;ENSP00000390121:M293I	ENSP00000352308:M29I	M	+	3	0	DDX42	59238848	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.062000	0.89475	2.826000	0.97356	0.655000	0.94253	ATG		0.413	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		37	76	0	0	0	1	0	37	76				
CASP6	839	broad.mit.edu	37	4	110617580	110617580	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr4:110617580A>T	ENST00000265164.2	-	4	370	c.293T>A	c.(292-294)cTc>cAc	p.L98H	CASP6_ENST00000505486.1_Intron|CASP6_ENST00000352981.3_Intron|CASP6_ENST00000510324.1_5'Flank	NM_001226.3	NP_001217.2	P55212	CASP6_HUMAN	caspase 6, apoptosis-related cysteine peptidase	98					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|epithelial cell differentiation (GO:0030855)|proteolysis (GO:0006508)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000171)		ATGAATTTTGAGCAGTAGTTC	0.328																																						uc003hzn.1																			0		p.L98F(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(292-294)cTc>cAc		Homo sapiens caspase 6, apoptosis-related cysteine peptidase (CASP6), transcript variant alpha, mRNA.							94.0	89.0	90.0					4																	110617580		2200	4300	6500	SO:0001583	missense	839				cellular component disassembly involved in apoptosis|induction of apoptosis|proteolysis	cytosol|nucleoplasm	cysteine-type endopeptidase activity|protein binding	g.chr4:110617580A>T	U20536	CCDS3684.1, CCDS3685.1	4q25	2008-02-05	2005-08-17		ENSG00000138794	ENSG00000138794		"""Caspases"""	1507	protein-coding gene	gene with protein product		601532	"""caspase 6, apoptosis-related cysteine protease"""			8780721, 7796396	Standard	XM_005263271		Approved	MCH2	uc003hzn.1	P55212	OTTHUMG00000131914	ENST00000265164.2:c.293T>A	4.37:g.110617580A>T	ENSP00000265164:p.Leu98His		Somatic				CASP6_uc003hzo.1_Intron	p.L98H	NM_001226	NP_001217	WXS	Illumina GAIIx	Phase_I	P55212	CASP6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000171)	3	371	-		Hepatocellular(203;0.217)	98					Q9BQE7	Missense_Mutation	SNP	ENST00000265164.2	37	c.293T>A	CCDS3684.1	.	.	.	.	.	.	.	.	.	.	A	11.22	1.575344	0.28092	.	.	ENSG00000138794	ENST00000265164;ENST00000503684	T;T	0.20598	2.06;2.06	5.83	-0.0616	0.13784	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	1.132410	0.06319	N	0.704108	T	0.16041	0.0386	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.34675	-0.9819	10	0.46703	T	0.11	.	6.125	0.20174	0.3781:0.2184:0.0:0.4036	.	98	P55212	CASP6_HUMAN	H	98;80	ENSP00000265164:L98H;ENSP00000427669:L80H	ENSP00000265164:L98H	L	-	2	0	CASP6	110837029	0.000000	0.05858	0.877000	0.34402	0.968000	0.65278	0.272000	0.18644	0.073000	0.16731	-0.323000	0.08544	CTC		0.328	CASP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254866.1	NM_001226		13	15	0	0	0	1	0	13	15				
TRPV3	162514	broad.mit.edu	37	17	3438882	3438882	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr17:3438882C>G	ENST00000576742.1	-	7	1090	c.769G>C	c.(769-771)Gaa>Caa	p.E257Q	TRPV3_ENST00000572519.1_Missense_Mutation_p.E257Q|TRPV3_ENST00000301365.4_Missense_Mutation_p.E257Q	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	257					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	TAGAAGCCTTCGTGTTGGTAC	0.692																																						uc002fvr.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35						c.(769-771)Gaa>Caa		Homo sapiens transient receptor potential cation channel, subfamily V, member 3 (TRPV3), mRNA.	Menthol(DB00825)						32.0	32.0	32.0					17																	3438882		2202	4300	6502	SO:0001583	missense	162514					integral to membrane	calcium channel activity	g.chr17:3438882C>G	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.769G>C	17.37:g.3438882C>G	ENSP00000461518:p.Glu257Gln		Somatic				TRPV3_uc002fvs.1_Non-coding_Transcript|TRPV3_uc010vrh.1_Missense_Mutation_p.E241Q|TRPV3_uc010vri.1_Missense_Mutation_p.E212Q|TRPV3_uc010vrk.1_Non-coding_Transcript|TRPV3_uc002fvt.1_Missense_Mutation_p.E257Q|TRPV3_uc010vrj.1_Missense_Mutation_p.E241Q|TRPV3_uc010vrm.1_Non-coding_Transcript|TRPV3_uc010vrl.1_Missense_Mutation_p.E241Q|TRPV3_uc002fvu.3_Missense_Mutation_p.E257Q	p.E257Q	NM_145068	NP_659505	WXS	Illumina GAIIx	Phase_I	Q8NET8	TRPV3_HUMAN			6	1091	-			257					Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	ENST00000576742.1	37	c.769G>C	CCDS11029.1	.	.	.	.	.	.	.	.	.	.	c	11.52	1.662158	0.29515	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	D	0.87809	-2.3	4.93	3.96	0.45880	Ankyrin repeat-containing domain (3);	0.075449	0.56097	D	0.000037	D	0.82742	0.5103	L	0.41906	1.305	0.28711	N	0.903541	B;B;B;B;P;B;B	0.35272	0.021;0.048;0.195;0.013;0.493;0.36;0.294	B;B;B;B;B;B;B	0.39531	0.041;0.045;0.096;0.03;0.302;0.159;0.197	T	0.73773	-0.3877	10	0.17832	T	0.49	-7.9938	14.7085	0.69208	0.1466:0.8534:0.0:0.0	.	241;241;257;241;257;257;257	E7EV24;B7ZKP9;Q2M3L1;B7ZKP6;Q8NET8-3;Q8NET8;Q8NET8-2	.;.;.;.;.;TRPV3_HUMAN;.	Q	257;257;241	ENSP00000301365:E257Q	ENSP00000301365:E257Q	E	-	1	0	TRPV3	3385632	0.124000	0.22315	0.999000	0.59377	0.275000	0.26752	2.157000	0.42320	1.423000	0.47198	-0.224000	0.12420	GAA		0.692	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068		20	38	0	0	0	1	0	20	38				
KIAA1755	85449	broad.mit.edu	37	20	36869104	36869104	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr20:36869104T>C	ENST00000279024.4	-	3	1700	c.1429A>G	c.(1429-1431)Aga>Gga	p.R477G		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	477										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CTCTGCCCTCTCAAGAATGAG	0.572																																						uc002xhy.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54						c.(1429-1431)Aga>Gga		Homo sapiens KIAA1755 (KIAA1755), mRNA.							66.0	69.0	68.0					20																	36869104		2203	4300	6503	SO:0001583	missense	85449							g.chr20:36869104T>C	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.1429A>G	20.37:g.36869104T>C	ENSP00000279024:p.Arg477Gly		Somatic				KIAA1755_uc002xhz.1_Missense_Mutation_p.R477G	p.R477G	NM_001029864	NP_001025035	WXS	Illumina GAIIx	Phase_I	Q5JYT7	K1755_HUMAN			2	1701	-		Myeloproliferative disorder(115;0.00874)	477					Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	c.1429A>G	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	T	10.43	1.347834	0.24426	.	.	ENSG00000149633	ENST00000279024;ENST00000373398	T	0.05786	3.39	4.85	3.73	0.42828	.	0.123829	0.36167	N	0.002754	T	0.03305	0.0096	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.37957	-0.9683	10	0.54805	T	0.06	.	6.1261	0.20180	0.0:0.1234:0.0:0.8766	.	477	Q5JYT7	K1755_HUMAN	G	477;24	ENSP00000279024:R477G	ENSP00000279024:R477G	R	-	1	2	KIAA1755	36302518	0.856000	0.29760	0.146000	0.22360	0.329000	0.28539	2.269000	0.43346	0.866000	0.35629	0.533000	0.62120	AGA		0.572	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		4	51	0	0	0	1	0	4	51				
HDGFRP2	84717	broad.mit.edu	37	19	4498373	4498373	+	Splice_Site	SNP	G	G	A			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr19:4498373G>A	ENST00000301284.4	+	12	1537	c.1473G>A	c.(1471-1473)ccG>ccA	p.P491P	HDGFRP2_ENST00000586684.1_Splice_Site_p.P491P	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		491					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										TCGACAGCCCGGTAAGACCCT	0.627																																						uc002mao.3																			0											c.e12+1		Homo sapiens hepatoma-derived growth factor-related protein 2 (HDGFRP2), transcript variant 1, mRNA.							36.0	39.0	38.0					19																	4498373		2059	4207	6266	SO:0001630	splice_region_variant	84717				transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:4498373G>A																												ENST00000301284.4:c.1473+1G>A	19.37:g.4498373G>A			Somatic				HDGFRP2_uc002map.3_Splice_Site_p.P491_splice|HDGFRP2_uc010dtz.1_Splice_Site|HDGFRP2_uc002maq.1_5'Flank|HDGFRP2_uc010dua.3_5'Flank	p.P491_splice	NM_001001520	NP_001001520	WXS	Illumina GAIIx	Phase_I	Q7Z4V5	HDGR2_HUMAN			12	1566	+			491					I3L080|K7EQZ6|Q96GI5|Q9BW08	Splice_Site	SNP	ENST00000301284.4	37	c.1473_splice	CCDS42472.1																																																																																				0.627	HDGFRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458642.1		Silent	7	16	0	0	0	1	0	7	16				
GULP1	51454	broad.mit.edu	37	2	189452645	189452645	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr2:189452645C>T	ENST00000409580.1	+	12	1526	c.812C>T	c.(811-813)cCa>cTa	p.P271L	GULP1_ENST00000409609.1_Missense_Mutation_p.P271L|GULP1_ENST00000409843.1_Missense_Mutation_p.P271L|GULP1_ENST00000359135.3_Missense_Mutation_p.P271L|GULP1_ENST00000409805.1_Missense_Mutation_p.P168L|GULP1_ENST00000409830.1_Missense_Mutation_p.P271L			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1	271					apoptotic process (GO:0006915)|lipid transport (GO:0006869)|phagocytosis, engulfment (GO:0006911)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			GATTTCCCTCCAGATATTCAA	0.358																																					Pancreas(178;563 2065 20199 42378 52815)	uc010fru.3																			0				endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13						c.(811-813)cCa>cTa		Homo sapiens GULP, engulfment adaptor PTB domain containing 1 (GULP1), transcript variant 1, mRNA.							90.0	91.0	91.0					2																	189452645		2203	4300	6503	SO:0001583	missense	51454				apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity	g.chr2:189452645C>T	AF191771	CCDS2295.1, CCDS58742.1, CCDS58743.1	2q32.3-q33	2008-02-05			ENSG00000144366	ENSG00000144366			18649	protein-coding gene	gene with protein product		608165				11729193	Standard	NM_001252668		Approved	CED6, CED-6, GULP	uc010fru.3	Q9UBP9	OTTHUMG00000132647	ENST00000409580.1:c.812C>T	2.37:g.189452645C>T	ENSP00000386289:p.Pro271Leu		Somatic				GULP1_uc002uqd.3_Missense_Mutation_p.P271L|GULP1_uc010zfw.2_Missense_Mutation_p.P168L|GULP1_uc002uqg.3_Missense_Mutation_p.P271L|GULP1_uc002uqf.3_Missense_Mutation_p.P271L|GULP1_uc002uqh.1_Missense_Mutation_p.P91L	p.P271L	NM_016315	NP_057399	WXS	Illumina GAIIx	Phase_I	Q9UBP9	GULP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)		10	1481	+			271					B2RB51|B4DQ40|B8ZZ72|D3DPH1|E9PB86|Q53PC1|Q53RF3|Q9BVL3	Missense_Mutation	SNP	ENST00000409580.1	37	c.812C>T	CCDS2295.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.2|26.2	4.716259|4.716259	0.89205|0.89205	.|.	.|.	ENSG00000144366|ENSG00000144366	ENST00000409843;ENST00000409830;ENST00000409805;ENST00000359135;ENST00000409580;ENST00000409609|ENST00000451191;ENST00000433052	T;T;T;T;T|.	0.59364|.	0.27;0.76;0.76;0.76;0.76|.	5.6|5.6	4.72|4.72	0.59763|0.59763	.|.	0.051277|.	0.85682|.	D|.	0.000000|.	T|.	0.73009|.	0.3532|.	M|M	0.73598|0.73598	2.24|2.24	0.80722|0.80722	D|D	1|1	D;P;D;D|.	0.89917|.	0.999;0.889;1.0;0.993|.	D;B;D;P|.	0.85130|.	0.951;0.399;0.997;0.794|.	T|.	0.73610|.	-0.3928|.	10|.	0.87932|.	D|.	0|.	-7.6992|-7.6992	13.7701|13.7701	0.63019|0.63019	0.0:0.9261:0.0:0.0739|0.0:0.9261:0.0:0.0739	.|.	168;95;271;271|.	E9PB86;Q59EC1;Q9UBP9;B8ZZ72|.	.;.;GULP1_HUMAN;.|.	L|X	271;271;168;271;271;271|96;156	ENSP00000387144:P271L;ENSP00000386732:P271L;ENSP00000352047:P271L;ENSP00000386289:P271L;ENSP00000386867:P271L|.	ENSP00000352047:P271L|.	P|Q	+|+	2|1	0|0	GULP1|GULP1	189160890|189160890	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.487000|7.487000	0.81328|0.81328	1.371000|1.371000	0.46172|0.46172	0.591000|0.591000	0.81541|0.81541	CCA|CAG		0.358	GULP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335722.1	NM_016315		16	33	0	0	0	1	0	16	33				
MUC5B	727897	broad.mit.edu	37	11	1269180	1269180	+	Silent	SNP	C	C	A			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr11:1269180C>A	ENST00000529681.1	+	31	11128	c.11070C>A	c.(11068-11070)acC>acA	p.T3690T	MUC5B_ENST00000447027.1_Silent_p.T3693T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3690	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGGGGACGACCTGGATCCTCA	0.622																																						uc001lta.3																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(11068-11070)acC>acA		Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.							128.0	159.0	149.0					11																	1269180		2082	4177	6259	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1269180C>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.11070C>A	11.37:g.1269180C>A			Somatic					p.T3690T	NM_002458	NP_002449	WXS	Illumina GAIIx	Phase_I	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	30	11129	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3690	Missing (in Ref. 6; AAB61398).		11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.11070C>A	CCDS44515.2																																																																																				0.622	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		123	245	0	0	0	1	0	123	245				
OR10G4	390264	broad.mit.edu	37	11	123886643	123886643	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr11:123886643G>A	ENST00000320891.4	+	1	362	c.362G>A	c.(361-363)cGc>cAc	p.R121H		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TCCTATGATCGCTACTTGGCC	0.572																																						uc010sac.2																			0		p.R121C(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48						c.(361-363)cGc>cAc		Homo sapiens olfactory receptor, family 10, subfamily G, member 4 (OR10G4), mRNA.							108.0	101.0	103.0					11																	123886643		2202	4296	6498	SO:0001583	missense	390264				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123886643G>A	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.362G>A	11.37:g.123886643G>A	ENSP00000325076:p.Arg121His		Somatic					p.R121H	NM_001004462	NP_001004462	WXS	Illumina GAIIx	Phase_I	Q8NGN3	O10G4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	0	362	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	121					Q6IEW0	Missense_Mutation	SNP	ENST00000320891.4	37	c.362G>A	CCDS31702.1	.	.	.	.	.	.	.	.	.	.	g	15.59	2.878134	0.51801	.	.	ENSG00000254737	ENST00000320891	T	0.77489	-1.1	3.48	1.57	0.23409	GPCR, rhodopsin-like superfamily (1);	0.149917	0.28521	N	0.015052	T	0.75722	0.3888	M	0.86268	2.805	0.38271	D	0.942168	B	0.31413	0.322	B	0.27608	0.081	T	0.74677	-0.3585	10	0.72032	D	0.01	.	8.6759	0.34179	0.1926:0.0:0.8074:0.0	.	121	Q8NGN3	O10G4_HUMAN	H	121	ENSP00000325076:R121H	ENSP00000325076:R121H	R	+	2	0	OR10G4	123391853	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.774000	0.62339	0.300000	0.22699	0.580000	0.79431	CGC		0.572	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		33	118	0	0	0	1	0	33	118				
FAM101B	359845	broad.mit.edu	37	17	293075	293075	+	Silent	SNP	C	C	T	rs373345868		TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr17:293075C>T	ENST00000329099.4	-	2	314	c.315G>A	c.(313-315)aaG>aaA	p.K105K		NM_182705.2	NP_874364.1	Q8N5W9	F101B_HUMAN	family with sequence similarity 101, member B	175					actin cytoskeleton organization (GO:0030036)|epithelial to mesenchymal transition (GO:0001837)	actin cytoskeleton (GO:0015629)	filamin binding (GO:0031005)			breast(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)|urinary_tract(1)	13		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.0216)		TGTAGACGGCCTTGGGGTACT	0.642																																						uc002frj.3																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)|urinary_tract(1)	13						c.(313-315)aaG>aaA		Homo sapiens family with sequence similarity 101, member B (FAM101B), mRNA.		C		0,4232		0,0,2116	68.0	74.0	72.0		316	3.5	1.0	17		72	1,8443		0,1,4221	no	coding-synonymous	FAM101B	NM_182705.2		0,1,6337	TT,TC,CC		0.0118,0.0,0.0079		175/215	293075	1,12675	2116	4222	6338	SO:0001819	synonymous_variant	359845							g.chr17:293075C>T			17p13	2008-10-23			ENSG00000183688	ENSG00000183688			28705	protein-coding gene	gene with protein product		615928				12477932	Standard	NM_182705		Approved	MGC45871	uc002frj.3	Q8N5W9	OTTHUMG00000132483	ENST00000329099.4:c.315G>A	17.37:g.293075C>T			Somatic					p.K105K	NM_182705	NP_874364	WXS	Illumina GAIIx	Phase_I	Q8N5W9	F101B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0216)	1	316	-		Myeloproliferative disorder(207;0.204)	175						Silent	SNP	ENST00000329099.4	37	c.315G>A																																																																																					0.642	FAM101B-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255652.1	NM_182705		16	36	0	0	0	1	0	16	36				
BRAT1	221927	broad.mit.edu	37	7	2582951	2582951	+	Silent	SNP	G	G	A			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr7:2582951G>A	ENST00000340611.4	-	6	1066	c.810C>T	c.(808-810)ccC>ccT	p.P270P	BRAT1_ENST00000473879.1_5'Flank	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	270					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						AACTGAACACGGGAGAACTGC	0.627																																						uc003smi.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						c.(808-810)ccC>ccT		Homo sapiens BRCA1-associated ATM activator 1 (BRAT1), mRNA.							33.0	39.0	37.0					7																	2582951		2203	4300	6503	SO:0001819	synonymous_variant	221927				response to ionizing radiation	nucleus	protein binding	g.chr7:2582951G>A	BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"""BRCA1-associated protein required for ATM activation protein 1"""	614506	"""chromosome 7 open reading frame 27"""	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.810C>T	7.37:g.2582951G>A			Somatic				BRAT1_uc003smh.4_5'Flank|BRAT1_uc021zyz.1_3'UTR|BRAT1_uc003smj.2_3'UTR	p.P270P	NM_152743	NP_689956	WXS	Illumina GAIIx	Phase_I	Q6PJG6	BRAT1_HUMAN			5	1098	-			270					A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Silent	SNP	ENST00000340611.4	37	c.810C>T	CCDS5334.1																																																																																				0.627	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2	NM_152743		28	51	0	0	0	1	0	28	51				
ITGB8	3696	broad.mit.edu	37	7	20403260	20403260	+	Splice_Site	SNP	A	A	C			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr7:20403260A>C	ENST00000222573.4	+	2	812	c.128A>C	c.(127-129)gAa>gCa	p.E43A	ITGB8_ENST00000537992.1_5'UTR	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	43					cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TTCATTGCAGAAGACAATAGA	0.368																																						uc003suu.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						c.e2-1		Homo sapiens integrin, beta 8 (ITGB8), mRNA.							60.0	55.0	57.0					7																	20403260		2203	4299	6502	SO:0001630	splice_region_variant	3696				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	g.chr7:20403260A>C		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.128-1A>C	7.37:g.20403260A>C			Somatic				ITGB8_uc011jyh.2_Splice_Site|ITGB8_uc003sut.3_Splice_Site_p.E43_splice	p.E43_splice	NM_002214	NP_002205	WXS	Illumina GAIIx	Phase_I	P26012	ITB8_HUMAN			2	833	+			43					A4D133|B4DHD4	Splice_Site	SNP	ENST00000222573.4	37	c.128_splice	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	A	5.106	0.205108	0.09704	.	.	ENSG00000105855	ENST00000222573	D	0.89939	-2.59	5.57	5.57	0.84162	.	0.108639	0.39475	N	0.001344	D	0.88020	0.6325	N	0.24115	0.695	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.70935	0.971;0.956	D	0.86094	0.1552	9	.	.	.	.	7.1114	0.25392	0.6813:0.1935:0.0:0.1252	.	43;43	P26012;Q9BUG9	ITB8_HUMAN;.	A	43	ENSP00000222573:E43A	.	E	+	2	0	ITGB8	20369785	1.000000	0.71417	1.000000	0.80357	0.248000	0.25809	1.801000	0.38843	2.119000	0.64992	0.533000	0.62120	GAA		0.368	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214	Missense_Mutation	8	15	0	0	0	1	0	8	15				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		17	32	0	0	0	1	0	17	32				
OTUD7B	56957	broad.mit.edu	37	1	149943019	149943019	+	Silent	SNP	G	G	A			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr1:149943019G>A	ENST00000369135.4	-	3	540	c.246C>T	c.(244-246)atC>atT	p.I82I	OTUD7B_ENST00000479905.1_5'UTR	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	82					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GCCGCTGGAGGATGGGTCGGG	0.532																																						uc001eto.3																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(142-144)tCc>tTc		Homo sapiens OTU domain containing 7B (OTUD7B), mRNA.							87.0	86.0	86.0					1																	149943019		1898	4119	6017	SO:0001819	synonymous_variant	56957				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|cysteine-type peptidase activity|protein binding|zinc ion binding	g.chr1:149943019G>A	AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.246C>T	1.37:g.149943019G>A			Somatic				OTUD7B_uc001etn.3_Silent_p.I82I	p.S48F			WXS	Illumina GAIIx	Phase_I	Q6GQQ9	OTU7B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)		0	161	-	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		0					B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	ENST00000369135.4	37	c.143C>T	CCDS41389.1																																																																																				0.532	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205		8	141	0	0	0	1	0	8	141				
SMG7	9887	broad.mit.edu	37	1	183520210	183520210	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr1:183520210C>T	ENST00000347615.2	+	21	3304	c.3185C>T	c.(3184-3186)tCa>tTa	p.S1062L	SMG7_ENST00000507469.1_Missense_Mutation_p.S1066L|SMG7_ENST00000515829.2_Missense_Mutation_p.S1016L|SMG7_ENST00000456731.2_Missense_Mutation_p.S974L|SMG7_ENST00000367537.3_Missense_Mutation_p.S1095L|SMG7_ENST00000508461.1_Missense_Mutation_p.S1070L	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	1062					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GATTATCTCTCAGCAACGTCA	0.517																																						uc001gqf.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(3196-3198)tCa>tTa		Homo sapiens smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG7), transcript variant 4, mRNA.							81.0	75.0	77.0					1																	183520210		2203	4300	6503	SO:0001583	missense	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183520210C>T	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.3185C>T	1.37:g.183520210C>T	ENSP00000340766:p.Ser1062Leu		Somatic				SMG7_uc001gqh.3_Missense_Mutation_p.S1016L|SMG7_uc001gqg.3_Missense_Mutation_p.S1062L|SMG7_uc010poc.2_Missense_Mutation_p.S1070L	p.S1066L	NM_201569	NP_963863	WXS	Illumina GAIIx	Phase_I	Q92540	SMG7_HUMAN			21	3447	+			1062					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.3197C>T	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.890019	0.72524	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T	0.21734	2.0;2.01;1.99;2.0;1.99;2.0	5.34	5.34	0.76211	.	0.381282	0.26397	N	0.024602	T	0.15912	0.0383	N	0.14661	0.345	0.49213	D	0.999761	B;B;B;B;B	0.27559	0.181;0.023;0.039;0.058;0.181	B;B;B;B;B	0.24155	0.031;0.011;0.047;0.031;0.051	T	0.06409	-1.0828	10	0.48119	T	0.1	-11.0075	19.4086	0.94658	0.0:1.0:0.0:0.0	.	1070;974;1016;1062;1066	E9PCI0;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;SMG7_HUMAN;.	L	974;1095;1070;1062;1066;1016	ENSP00000407629:S974L;ENSP00000356507:S1095L;ENSP00000426915:S1070L;ENSP00000340766:S1062L;ENSP00000425133:S1066L;ENSP00000421358:S1016L	ENSP00000340766:S1062L	S	+	2	0	SMG7	181786833	1.000000	0.71417	0.975000	0.42487	0.885000	0.51271	6.874000	0.75546	2.637000	0.89404	0.650000	0.86243	TCA		0.517	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		16	56	0	0	0	1	0	16	56				
STAB2	55576	broad.mit.edu	37	12	104153016	104153016	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr12:104153016C>A	ENST00000388887.2	+	65	7417	c.7213C>A	c.(7213-7215)Ctg>Atg	p.L2405M	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GGGAAGCAAGCTGCTCATCAC	0.547																																						uc001tjw.3																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(7213-7215)Ctg>Atg		Homo sapiens stabilin 2 (STAB2), mRNA.							119.0	96.0	104.0					12																	104153016		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104153016C>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.7213C>A	12.37:g.104153016C>A	ENSP00000373539:p.Leu2405Met		Somatic				STAB2_uc009zug.3_Non-coding_Transcript	p.L2405M	NM_017564	NP_060034	WXS	Illumina GAIIx	Phase_I	Q8WWQ8	STAB2_HUMAN			64	7399	+			2405			FAS1 7.			Missense_Mutation	SNP	ENST00000388887.2	37	c.7213C>A	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243942	0.39697	.	.	ENSG00000136011	ENST00000388887	D	0.92752	-3.1	4.77	4.77	0.60923	FAS1 domain (4);	0.286853	0.28504	N	0.015108	D	0.94128	0.8117	M	0.88450	2.955	0.35285	D	0.781661	P	0.34934	0.476	P	0.44561	0.453	D	0.97175	0.9847	10	0.72032	D	0.01	.	10.4217	0.44354	0.0:0.909:0.0:0.091	.	2405	Q8WWQ8	STAB2_HUMAN	M	2405	ENSP00000373539:L2405M	ENSP00000373539:L2405M	L	+	1	2	STAB2	102677146	1.000000	0.71417	1.000000	0.80357	0.537000	0.34900	3.626000	0.54245	2.340000	0.79590	0.655000	0.94253	CTG		0.547	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			23	49	0	0	0	1	0	23	49				
BDP1	55814	broad.mit.edu	37	5	70800541	70800541	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr5:70800541C>T	ENST00000358731.4	+	16	2598	c.2335C>T	c.(2335-2337)Cag>Tag	p.Q779*	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	779					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TCAAAATGTGCAGCCAGATGA	0.333																																						uc003kbp.1																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(2335-2337)Cag>Tag		Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.							93.0	85.0	87.0					5																	70800541		1835	4092	5927	SO:0001587	stop_gained	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70800541C>T	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.2335C>T	5.37:g.70800541C>T	ENSP00000351575:p.Gln779*		Somatic				BDP1_uc003kbn.1_Nonsense_Mutation_p.Q779*|BDP1_uc003kbo.3_Nonsense_Mutation_p.Q779*	p.Q779*	NM_018429	NP_060899	WXS	Illumina GAIIx	Phase_I	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	15	2598	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	779					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Nonsense_Mutation	SNP	ENST00000358731.4	37	c.2335C>T	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	C	39	7.546535	0.98352	.	.	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000451951;ENST00000444711	.	.	.	4.67	2.69	0.31865	.	0.588395	0.15316	N	0.268792	.	.	.	.	.	.	0.09310	N	0.999992	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	6.7351	0.23405	0.2193:0.5961:0.1846:0.0	.	.	.	.	X	779;779;359;779	.	ENSP00000351575:Q779X	Q	+	1	0	BDP1	70836297	0.000000	0.05858	0.002000	0.10522	0.058000	0.15608	0.499000	0.22546	1.178000	0.42870	0.650000	0.86243	CAG		0.333	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		11	27	0	0	0	1	0	11	27				
UBN2	254048	broad.mit.edu	37	7	138968642	138968642	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr7:138968642delC	ENST00000473989.3	+	15	2991	c.2991delC	c.(2989-2991)cacfs	p.H997fs	UBN2_ENST00000288561.8_Frame_Shift_Del_p.H914fs	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	997	Ser-rich.					extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AAGGGTCCCACCCCCTGGTTT	0.493																																						uc011kqr.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						c.(2989-2991)cacfs		Homo sapiens ubinuclein 2 (UBN2), mRNA.							80.0	79.0	79.0					7																	138968642		1915	4144	6059	SO:0001589	frameshift_variant	254048							g.chr7:138968642delC	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.2991delC	7.37:g.138968642delC	ENSP00000418648:p.His997fs		Somatic					p.H997fs	NM_173569	NP_775840	WXS	Illumina GAIIx	Phase_I	Q6ZU65	UBN2_HUMAN			14	2991	+			997			Ser-rich.		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Frame_Shift_Del	DEL	ENST00000473989.3	37	c.2991delC	CCDS43655.2																																																																																				0.493	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		22	45						22	45	---	---	---	---
